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GTR Home > Conditions/Phenotypes > 3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria type 4

Synonyms
3 alpha methylglutaconic aciduria type IV; 3-methylglutaconic aciduria type IV; MGA, TYPE IV
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950) [from OMIM]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Molecular resources

Consumer resources

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